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Neuromuscul Disord. 2006 Feb;16(2):122-5. Epub 2006 Jan 19.

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

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1
Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

Abstract

Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN). We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.

PMID:
16427281
DOI:
10.1016/j.nmd.2005.11.003
[Indexed for MEDLINE]
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